Variant report

Variant	rs2190994
Chromosome Location	chr7:150077617-150077618
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150074307-150077919	GM18951	blood:	n/a	n/a
2	ESRRA	chr7:150072696-150078301	GM12878	blood:	n/a	chr7:150072882-150072895 chr7:150072884-150072894 chr7:150072882-150072894 chr7:150073704-150073717 chr7:150072884-150072894
3	POLR2A	chr7:150074364-150077960	GM18526	blood:	n/a	n/a
4	MAX	chr7:150077450-150077899	GM12878	blood:	n/a	n/a
5	POU2F2	chr7:150077375-150078049	GM12878	blood:	n/a	n/a
6	EP300	chr7:150077264-150078058	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:150077496-150077819	GM12878	blood:	n/a	n/a
8	RUNX3	chr7:150077535-150078009	GM12878	blood:	n/a	n/a
9	IKZF1	chr7:150077494-150078132	GM12878	blood:	n/a	n/a
10	RELA	chr7:150074244-150078186	GM19099	blood:	n/a	n/a
11	IRF4	chr7:150077445-150077952	GM12878	blood:	n/a	n/a
12	MTA3	chr7:150076296-150078044	GM12878	blood:	n/a	n/a
13	SPI1	chr7:150077488-150077987	GM12878	blood:	n/a	n/a
14	RELA	chr7:150076947-150078073	GM18505	blood:	n/a	n/a
15	FOXM1	chr7:150077249-150078056	GM12878	blood:	n/a	n/a
16	RCOR1	chr7:150077538-150077924	GM12878	blood:	n/a	n/a
17	EP300	chr7:150077549-150078108	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:150076683-150077933	GM12892	blood:	n/a	n/a
19	RELA	chr7:150076881-150078130	GM18951	blood:	n/a	n/a
20	POLR2A	chr7:150076865-150077848	GM12891	blood:	n/a	n/a
21	STAT3	chr7:150077156-150077984	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:150077499-150077804	GM12878	blood:	n/a	n/a
23	PAX5	chr7:150077472-150078069	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:150075738-150077661	H1-neurons	neurons:	n/a	n/a
25	BHLHE40	chr7:150076922-150078036	GM12878	blood:	n/a	n/a
26	SPI1	chr7:150077454-150077933	GM12891	blood:	n/a	n/a
27	TBL1XR1	chr7:150077168-150078035	GM12878	blood:	n/a	n/a
28	REST	chr7:150075029-150077659	H1-neurons	neurons:	n/a	chr7:150076556-150076566 chr7:150076024-150076031 chr7:150076561-150076574 chr7:150076217-150076230
29	POLR2A	chr7:150072892-150077940	GM12878	blood:	n/a	n/a
30	HCFC1	chr7:150074928-150077860	Hela-S3	cervix:	n/a	n/a
31	NFE2	chr7:150077521-150077708	GM12878	blood:	n/a	n/a
32	USF2	chr7:150077295-150077837	GM12878	blood:	n/a	n/a
33	EP300	chr7:150077445-150078088	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:150075103-150077921	GM12891	blood:	n/a	n/a
35	RELA	chr7:150076978-150078181	GM19193	blood:	n/a	n/a
36	POLR2A	chr7:150072822-150081034	GM19099	blood:	n/a	n/a
37	ATF2	chr7:150077533-150077989	GM12878	blood:	n/a	n/a
38	RELA	chr7:150075146-150078180	GM15510	blood:	n/a	n/a
39	POLR2A	chr7:150072869-150078584	GM12878	blood:	n/a	n/a
40	MTA3	chr7:150077291-150077990	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:150074599-150077952	GM12878	blood:	n/a	n/a
42	WRNIP1	chr7:150076784-150078616	GM12878	blood:	n/a	n/a
43	MAZ	chr7:150075924-150078221	GM12878	blood:	n/a	chr7:150076231-150076241
44	RUNX3	chr7:150077440-150078097	GM12878	blood:	n/a	n/a
45	SPI1	chr7:150077332-150078098	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:150076641-150077955	GM12891	blood:	n/a	n/a
47	POLR2A	chr7:150075102-150077958	GM12891	blood:	n/a	n/a
48	POLR2A	chr7:150075176-150077818	GM10847	blood:	n/a	n/a
49	SP1	chr7:150077561-150078063	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:150075041-150078062	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150077602-150077652	GM12891	blood:	n/a
2	chr7:150077602-150077652	NH-A	brain:	n/a
3	chr7:150077602-150077652	PANC-1	pancreas:	n/a
4	chr7:150077602-150077652	U87	brain:	n/a
5	chr7:150077602-150077652	AG10803	skin:	n/a
6	chr7:150077602-150077652	Hepatocyte	liver:	n/a
7	chr7:150077602-150077652	Jurkat	blood:	n/a
8	chr7:150077602-150077652	HMEC	breast:	n/a
9	chr7:150077602-150077652	H1-hESC	embryonic stem cell:	embryo
10	chr7:150077602-150077652	HNPCEpiC	eye:	n/a
11	chr7:150077602-150077652	CMK	blood:	n/a
12	chr7:150077602-150077652	NHBE	bronchial:	n/a
13	chr7:150077602-150077652	SK-N-SH	brain:	n/a
14	chr7:150077602-150077652	SAEC	small airway:	n/a
15	chr7:150077602-150077652	NB4	blood:	n/a
16	chr7:150077602-150077652	GM12878	blood:	n/a
17	chr7:150077602-150077652	SK-N-SH_RA	brain:	n/a
18	chr7:150077602-150077652	HIPEpiC	eye:	n/a
19	chr7:150077602-150077652	NHDF-neo	bronchial:	n/a
20	chr7:150077602-150077652	AG09309	skin:	n/a
21	chr7:150077602-150077652	BJ	skin:	n/a
22	chr7:150077602-150077652	IMR90	lung:	fetal
23	chr7:150077602-150077652	HEK293	kidney:	embryo
24	chr7:150077602-150077652	AG04449	skin:	fetal
25	chr7:150077602-150077652	MCF-7	breast:	n/a
26	chr7:150077602-150077652	PFSK-1	brain:	n/a
27	chr7:150077602-150077652	HRPEpiC	eye:	n/a
28	chr7:150077602-150077652	HCPEpiC	choroid plexus:	n/a
29	chr7:150077602-150077652	HAEpiC	amniotic membrane:	n/a
30	chr7:150077602-150077652	AG09319	gingival:	n/a
31	chr7:150077602-150077652	K562	blood:	n/a
32	chr7:150077602-150077652	GM19239	blood:	n/a
33	chr7:150077602-150077652	GM12892	blood:	n/a
34	chr7:150077602-150077652	SK-N-MC	brain:	n/a
35	chr7:150077602-150077652	PrEC	prostate:	n/a
36	chr7:150077602-150077652	HepG2	liver:	n/a
37	chr7:150077602-150077652	ProgFib	skin:	n/a
38	chr7:150077602-150077652	LNCaP	prostate:	n/a
39	chr7:150077602-150077652	A549	lung:	n/a
40	chr7:150077602-150077652	HCT-116	colon:	n/a
41	chr7:150077602-150077652	AoSMC	blood vessel:	n/a
42	chr7:150077602-150077652	RPTEC	kidney:	n/a
43	chr7:150077602-150077652	HUVEC	blood vessel:	n/a
44	chr7:150077602-150077652	HRCEpiC	kidney:	n/a
45	chr7:150077602-150077652	Hela-S3	cervix:	n/a
46	chr7:150077602-150077652	GM06990	blood:	n/a
47	chr7:150077602-150077652	T-47D	breast:	n/a
48	chr7:150077602-150077652	HRE	kidney:	n/a
49	chr7:150077602-150077652	ECC-1	luminal epithelium:	n/a
50	chr7:150077602-150077652	MCF10A-Er-Src	breast:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150076049..150078828-chr7:151216255..151218028,2	K562	blood:
2	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
3	chr7:150074289..150079503-chr7:150100156..150104408,10	MCF-7	breast:
4	chr7:150073288..150077950-chr7:150093880..150099928,8	MCF-7	breast:
5	chr7:150017073..150026383-chr7:150074145..150079980,13	MCF-7	breast:
6	chr7:150017819..150020177-chr7:150077421..150080084,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF775	TF binding region
ZNF775	CpG island
ENSG00000196456	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000127399	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10480297	0.92[ASN][1000 genomes]
rs11762223	0.85[ASN][1000 genomes]
rs11773825	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17173702	0.88[ASN][1000 genomes]
rs17173703	0.88[ASN][1000 genomes]
rs57274670	0.92[ASN][1000 genomes]
rs6946097	0.82[ASN][1000 genomes]
rs6946153	0.82[ASN][1000 genomes]
rs71537958	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
16	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv889460	chr7:150060163-150079459	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
18	nsv889461	chr7:150060163-150081485	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
19	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
20	esv3373493	chr7:150075044-150077892	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150076000-150077800	Active TSS	HSMMtube	muscle
2	chr7:150076800-150077800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:150076800-150077800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:150076800-150077800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:150076800-150077800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:150076800-150077800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr7:150076800-150077800	Flanking Active TSS	Hela-S3	cervix
8	chr7:150076800-150077800	Flanking Active TSS	HMEC	breast
9	chr7:150076800-150077800	Flanking Active TSS	K562	blood
10	chr7:150076800-150078000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr7:150077000-150077800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:150077000-150077800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:150077000-150077800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr7:150077000-150077800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:150077000-150077800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr7:150077000-150077800	Flanking Active TSS	Fetal Stomach	stomach
17	chr7:150077000-150077800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:150077000-150077800	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr7:150077000-150077800	Enhancers	Stomach Mucosa	stomach
20	chr7:150077000-150077800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr7:150077000-150077800	Flanking Active TSS	HUVEC	blood vessel
22	chr7:150077000-150077800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr7:150077000-150078000	Flanking Active TSS	Dnd41	blood
24	chr7:150077000-150078200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:150077000-150078200	Enhancers	Small Intestine	intestine
26	chr7:150077000-150078600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr7:150077000-150078600	Flanking Active TSS	GM12878-XiMat	blood
28	chr7:150077000-150080200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:150077200-150077800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:150077200-150077800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr7:150077200-150077800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:150077200-150077800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:150077200-150077800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:150077200-150077800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr7:150077200-150077800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr7:150077200-150077800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr7:150077200-150077800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr7:150077200-150077800	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr7:150077200-150077800	Enhancers	Esophagus	oesophagus
40	chr7:150077200-150077800	Flanking Active TSS	Fetal Lung	lung
41	chr7:150077200-150077800	Flanking Active TSS	Thymus	Thymus
42	chr7:150077200-150077800	Flanking Active TSS	A549	lung
43	chr7:150077200-150077800	Flanking Active TSS	NHLF	lung
44	chr7:150077200-150078000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr7:150077200-150078000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:150077200-150078000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:150077200-150078000	Enhancers	Liver	Liver
48	chr7:150077200-150078000	Flanking Active TSS	Fetal Brain Male	brain
49	chr7:150077200-150078000	Flanking Active TSS	HepG2	liver
50	chr7:150077200-150078200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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